Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant

Introduction Persistent müllerian duct syndrome (PMDS) is a rare form of 46, XY disorder of sex development characterized by the persistence of the müllerian structures (uterus, fallopian tubes, the upper part of the vagina) in phenotypically and genotypically normal males. This disease occurs as a result of impairment in the synthesis, release or effect of anti-Müllerian hormone (AMH) during the embryonic period. Approximately 85–88% of PMDS cases have been reported to have AMH or AMHRII mutation.Case Herein, we report two PMDS cases from unrelated two families who presented with bilateral undescended testes, persistence of müllerian remnants, and low/undetectable serum AMH levels. Molecular genetic analysis revealed two homozygous variants in AMH. The first one is a novel missense variant (c.1315C > T), the latter is a frameshift variant caused by a deletion (c.343_344delCT), which is less frequently reported type in AMH.Conclusion The diagnosis of PMDS should be kept in mind in patients with externally normal males, bilateral cryptorchidism, and signs of müllerian remnants on laparoscopy.